ClinVar Miner

Submissions for variant NM_023936.2(MRPS34):c.289C>T (p.Leu97Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV003329196 SCV004035971 uncertain significance Mitochondrial disease 2023-05-22 criteria provided, single submitter clinical testing The MPRS34 c.289C>T (p.Leu97Phe) missense variant has not, to our knowledge, been reported in the peer-reviewed literature. This variant is not observed in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. Based on the available evidence, c.289C>T (p.Leu97Phe) variant is classified as a variant of uncertain significance for primary mitochondrial disease.

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